ClinVar Miner

Submissions for variant NM_005896.4(IDH1):c.433G>T (p.Val145Phe)

dbSNP: rs2469025625
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004050023 SCV002631017 uncertain significance not specified 2022-10-11 criteria provided, single submitter clinical testing The p.V145F variant (also known as c.433G>T), located in coding exon 3 of the IDH1 gene, results from a G to T substitution at nucleotide position 433. The valine at codon 145 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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